Canonical Allele Identifier: CA392971853

Gene: CLN6

Linked Data

• gnomAD v4: 15-68208252-A-C
• MyVariant Identifiers: chr15:g.68500590A>C (hg19) ; chr15:g.68208252A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208252A>C , CM000677.2:g.68208252A>C	GRCh38
NC_000015.9:g.68500590A>C , CM000677.1:g.68500590A>C	GRCh37
NC_000015.8:g.66287644A>C	NCBI36
NG_008764.2:g.53960T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.824T>G MANE Select	ENSP00000249806.5:p.Leu275Arg
ENST00000562767.2:c.84-10624T>G	ENSP00000456336.1:n.84-10624T>G
ENST00000565471.6:c.365T>G	ENSP00000457384.1:p.Leu122Arg
ENST00000635747.1:c.*727T>G	ENSP00000490627.1:n.*727T>G
ENST00000636212.1:c.*494T>G	ENSP00000489851.1:n.*494T>G
ENST00000636674.1:n.1926T>G
ENST00000636964.1:n.2352T>G
ENST00000637054.1:c.198+10284T>G	ENSP00000490807.1:n.198+10284T>G
ENST00000637329.1:c.793T>G
ENST00000637450.1:c.*478T>G	ENSP00000490204.1:n.*478T>G
ENST00000637494.1:c.536T>G	ENSP00000490057.1:p.Leu179Arg
ENST00000637667.1:c.725T>G	ENSP00000489843.1:p.Leu242Arg
ENST00000637823.1:c.649T>G
ENST00000637888.1:c.198+10284T>G	ENSP00000490546.1:n.198+10284T>G
ENST00000638076.1:c.*427T>G	ENSP00000490373.1:n.*427T>G
ENST00000638144.1:n.467T>G
ENST00000646164.1:c.39-8571T>G
ENST00000249806.9:c.824T>G	ENSP00000249806.5:p.Leu275Arg
ENST00000538696.5:c.920T>G	ENSP00000445770.1:p.Leu307Arg
ENST00000562767.1:c.84-10624T>G	ENSP00000456336.1:n.84-10624T>G
ENST00000565471.5:c.365T>G	ENSP00000457384.1:p.Leu122Arg
ENST00000566347.5:c.635T>G	ENSP00000457783.1:p.Leu212Arg
ENST00000567060.5:c.*222T>G	ENSP00000454818.1:n.*222T>G
NM_017882.2:c.824T>G	NP_060352.1:p.Leu275Arg
NM_017882.3:c.824T>G MANE Select	NP_060352.1:p.Leu275Arg